Autosomal dominant Autosomal dominant. Autosomal dominant Autosomal dominant Autosomal dominant. Autosomal dominant Autosomal dominant Autosomal dominant

Autosomal dominant Autosomal dominant Autosomal dominant Autosomal dominant

Xeroderma pigmentosum Autosomal recessive

Albinism Down syndrome

Autosomal recessive Trisomy 2 I

Retinoblastoma, osteogenic sarcoma (later in life)

Parathyroid, pituitary, pancreas (islet ceil tumors)

Thyroid (medullary cancer),-.parathyroid, pheochromocytoma

Thyroid (medullary cancer), pheochromocytoma. mucosal neuromas .

Hundreds of colon polyps,, which .«hvays become colon cancer

Familial polyposis plus osteomas and soft tissue tumors .

Familial-polyposis plus central.nervous system tumors

Look for perioral freckles and multiple noncancerous GI polyps; increased incidence ojfwncoloii cancer (stomach, breast, ovaries, . no increased risk of colon cancer)

Multiple neurofibromas. care au-Uut spots; increased number of. . pheoehromocytomas, bone cysts; Wilms' tumor; leukemia

Bilateral acoustic neuromas

Adenoma sebaceum, seizures, mental retardation, glial nodules in brain; increased renal angiomyojipomas and cardiac rhabdomyomas

Hemangiomas in cerebellum, renal cell cancer-; cysts in liver and/or kidney

Skin cancer

Skin CLUtcere


MKN multiple endocrine neoplasia.

Other diseases with increased incidence of cancer are immunodeficiency syndromes, Bloom syndrome, and Panconi anemia. Breast, ovarian, and colon cancer have well known familial tendencies (along with some other types of cancer), but rarely can a Mendel ian inheritance pattern be demonstrated (yet).

Oncology 61

Avoidable risk factors for cancer development


Smoking, asbestos (also nickel, radon, coal, arsenic, chromium, unmitnn) Asbestos

Chemotherapy, radiotherapy, other inmuinosuppresslve drags, benzene Smoking, aniline dyes (rubber and dye industry), sdiistosomiasis (in immigrants) Ultraviolet light exposure (e.g., sun), coal.tar, arsenic Alcohol, vinyl chloride (liver angiosarcomas), anatoxins Smoking, alcohol Smoking, alcohol Smoking, alcohol Smoking Smoking

Alcohol, nitmsamines, nitrites (front smoked meats and fish) Mothers should avoid d.krhySstilhesttol (DJ.iS) during pregnancy High-iat ami low-fiber diet High-{'at and low-tlher diet Smoking, sex, high partly Childhood head, neck,or chest irradiation Unopposed esirogen stimulation, obesity Smc>fciiig?(seccrnd;'probahlyislcol ioi)

I.ung cancer is the number-one cause of overall cancer mortality in the U.S. 'flic incidence is rising in women (due to increased smoking). look for change in a chronic cough in a smoker. The more pack years of tobacco use, the more suspicious you should be. Patients also may present with hemoptysis, pneumonia, and/or weight loss. Chest x -ray may show pleural effusion; put a needle in the fluid, and examine for malignant cells. After chest x -ray, get a tissue biopsy to confirm the diagnosis and define the histologic type. Non-small cell cancer may be treated with surgery if.the cancer remains within the lung parenchyma. Small cell cancer is treated with chemotherapy only; early metastases make surgery inappropriate.

Weird and frequently tested consequences of lung cancer:

1. Horner's syndrome: from invasion of cervical sympathetic chain by an apical (Pancoast) tumor. Look for unilateral ptosis, miosis, and anhidrosis (no sweating)

2. Diaphragm paralysis: from phrenic nerve involvement

3. Hoarseness: from recurrent laryngeal nerve involvement

4. Superior vena cava syndrome: look for edema and plethora (redness) of the neck and face and central nervous system symptoms (headache, visual symptoms, altered mental status); due to compression of superior vena cava with impaired venous drainage

5. Cushrug's syndrome: from adrenocorticotropic hormone production by a small cell carcinoma

6. Syndrome of inappropriate secretion of antidiuretic hormone: from anitdiuretic hormone production by a small cell carcinoma







Oral cavity




Renal cell


Clear cell cancer






All cancer overall

7. Hypercalcemia: from bone metastases or production of parathyroid hormone by a squa mous cell carcinoma

8. Eaton-Lambert syndrome: myasthenia gravis like disease due to lung cancer that spares the ocular muscles; the muscles become stronger with repetitive stimulation (opposite of myasthenia gravis)

Solitary pulmonary nodule on chest x-ray: the first step is comparison with previous chest x-rays. If the nodule has remained the same size for > 2 years, it is not cancer. If no old films are available and patient is older than 35 or has a long smoking history, get a biopsy of the nodule (via bronchoscopy or transthoracic biopsy if possible) for tissue diagnosis. If the patient is younger than 35 or has no smoking history, the cause is most likely infectious (tuberculosis or fungi), hamartoma, or collagen vascular disease. The patient may undergo corefol observation and follow up with repeat chest x ray.

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